Possible mitochondrial disorder - nuclear genes
Gene: MRPL3
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated families (4 sibs + 1 unrelated case) and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 9, 614582
Publications
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 1:50 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.135) due to two family reports - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 1:32 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 9, 614582
Publications
Two unrelated families reported in the literature to date. Merits Amber.Created: 30 Aug 2018, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 9, MIM#614582
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: mrpl3 has been classified as Green List (High Evidence).
Gene: mrpl3 has been classified as Green List (High Evidence).
Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
gene: MRPL3 was added gene: MRPL3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL3 were set to 21786366; 27815843 Phenotypes for gene: MRPL3 were set to Combined oxidative phosphorylation deficiency 9, 614582